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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16473: Variant p.Gly431Ser

Thyrotropin receptor
Gene: TSHR
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Variant information Variant position: help 431 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Serine (S) at position 431 (G431S, p.Gly431Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HTNA; gain of function; constitutive activation of the G(s)/adenylyl cyclase system. Any additional useful information about the variant.


Sequence information Variant position: help 431 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 764 The length of the canonical sequence.
Location on the sequence: help IMGYKFLRIVVWFVSLLALL G NVFVLLILLTSHYKLNVPRF The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRF

                              IMGYKFLRIVVWFVSLLALLGNVFVLIVLLTSHYKLTVPRF

Mouse                         IMGYRFLRIVVWFVSLLALLGNIFVLLILLTSHYKLTVPRF

Rat                           IMGYKFLRIVVWFVSPMALLGNVFVLFVLLTSHYKLTVPRF

Pig                           IMGYRFLRIVVWFVSLLALLGNVFVLVILLTSHYKLTVPRF

Bovine                        IMGYKFLRIVVWFVSLLALLGNVFVLVILLTSHYKLTVPRF

Sheep                         IMGYKFLRIVVWFVSLLALLGNVFVLVILLTSHYKLTVPRF

Cat                           IMGYKFLRIVVWFVSLLALLGNVFVLIILLTSHYKLTVPRF
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 21 – 764 Thyrotropin receptor
Transmembrane 414 – 441 Helical; Name=1
Alternative sequence 254 – 764 Missing. In isoform Short.
Alternative sequence 275 – 764 Missing. In isoform 3.



Literature citations
Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood.
Biebermann H.; Schoeneberg T.; Krude H.; Gudermann T.; Grueters A.;
Langenbecks Arch. Surg. 385:390-392(2000)
Cited for: VARIANTS HTNA ASN-281; SER-431 AND ILE-632; The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.
Biebermann H.; Schoeneberg T.; Hess C.; Germak J.; Gudermann T.; Grueters A.;
J. Clin. Endocrinol. Metab. 86:4429-4433(2001)
Cited for: VARIANT HTNA SER-431; CHARACTERIZATION OF VARIANT HTNA SER-431;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.